Survival and prognostic factors in pediatric patients with medulloblastoma treated at a national pediatric hospital in Peru: a retrospective cohort.

OBJECTIVE: The objectives of this study were to determine the overall survival (OS) and event-free survival (EFS) rates of patients with medulloblastoma treated in a national pediatric hospital in Peru, as well as to identify demographic, clinical, imaging, postoperative, and histopathological characteristics and prognostic factors associated with OS and EFS. METHODS: The authors conducted a retrospective study analyzing information from the medical records of children with a diagnosis of medulloblastoma who underwent surgical treatment at the Instituto Nacional de Salud del Niño-San Borja, a public hospital in Lima, Peru, from 2015 to 2020. Clinical-epidemiological variables, degree of disease extension, risk stratification, extent of resection, postoperative complications, status of oncological treatment received, histological subtype, and neurological sequelae were taken into account. The Kaplan-Meier method and Cox regression analysis were used to estimate OS, EFS, and prognostic factors. RESULTS: Of the 57 children evaluated with complete medical records, only 22 children (38.6%) underwent complete oncological treatment. OS was 37% (95% CI 0.25-0.55) at 48 months. EFS was 44% (95% CI 0.31-0.61) at 23 months. High-risk stratification-meaning patients with ≥ 1.5 cm2 of residual postoperative tumor, those younger than 3 years, those with disseminated disease (HR 9.69, 95% CI 1.40-67.0, p = 0.02), and those who underwent subtotal resection (HR 3.78, 95% CI 1.09-13.2, p = 0.04)-was negatively associated with OS. Failure to receive complete oncological treatment was negatively associated with OS (HR 20.0, 95% CI 4.84-82.6, p < 0.001) and EFS (HR 7.82, 95% CI 2.47-24.7, p < 0.001). CONCLUSIONS: OS and EFS of patients with medulloblastoma in the author's milieu are below those reported in developed countries. Incomplete treatment and treatment abandonment in the authors' cohort were also high compared with high-income country statistics. Failure to complete oncological treatment was the most important factor associated with poor prognosis, both in terms of OS and EFS. High-risk patients and subtotal resection were negatively associated with OS. Interventions are needed to promote the completion of adjuvant oncological therapy for medulloblastoma in the disadvantaged Peruvian population.

Factors influencing outcomes of older children with medulloblastoma over 15 years in Peru, a resource-limited setting.

BACKGROUND: Medulloblastoma is the most common malignant brain tumor in children. While survival has improved in high-income countries (HIC), the outcomes for patients in low-to-middle-income countries (LMIC) are unclear. Therefore, we sought to determine the survival of children with medulloblastoma at the Instituto Nacional de Enfermedades Neoplasicas (INEN) between 1997 and 2013 in Peru. METHODS: Between 1997 and 2013, data from 103 children older than 3 years with medulloblastoma were analyzed. Fourteen patients were excluded. The patients were split into two distinct cohorts, 1997-2008 and 2009-2013, corresponding with chemotherapy regimen changes. Event-free (EFS) and overall survival (OS) were calculated using the Kaplan-Meier method, whereas prognostic factors were determined by univariate analysis (log-rank test). RESULTS: Eighty-nine patients were included; median age was 8.1 years (range: 3-13.9 years). The 5-year OS was 62% (95% CI: 53%-74%), while EFS was 57% (95% CI: 48%-69%). The variables adversely affecting survival were anaplastic histology (compared to desmoplastic; OS: HR = 3.4, p = .03), metastasis (OS: HR = 3.5, p = .01; EFS: HR = 4.3, p = .004), delay in radiation therapy of 31-60 days (compared to ≤30 days; EFS: HR = 2.1, p = .04), and treatment 2009-2013 cohort (OS: HR = 2.2, p = .02; EFS: HR = 2.0, p = .03). CONCLUSIONS: Outcomes for medulloblastoma at INEN were low compared with HIC. Anaplastic subtype, metastasis at diagnosis, delay in radiation therapy, and treatment in the period 2009-2013 negatively affected the outcomes in our study. Multidisciplinary teamwork, timely delivery of treatment, and partnerships with loco-regional groups and colleagues in HIC is likely beneficial.

Primary central nervous system sarcoma with DICER1 mutation-treatment results of a novel molecular entity in pediatric Peruvian patients.

BACKGROUND: A high frequency of primary central nervous system (CNS) sarcomas was observed in Peru. This article describes the clinical characteristics, biological characteristics, and outcome of 70 pediatric patients. METHODS: Data from 70 pediatric patients with primary CNS sarcomas diagnosed between January 2005 and June 2018 were analyzed. DNA methylation profiling from 28 tumors and gene panel sequencing from 27 tumors were available. RESULTS: The median age of the patients was 6 years (range, 2-17.5 years), and 66 of 70 patients had supratentorial tumors. DNA methylation profiling classified 28 of 28 tumors as primary CNS sarcoma, DICER1 mutant. DICER1 mutations were found in 26 of 27 cases, TP53 mutations were found in 22 of 27 cases, and RAS-pathway gene mutations (NF1, KRAS, and NRAS) were found in 19 of 27 tumors, all of which were somatic (germline control available in 19 cases). The estimated incidence in Peru was 0.19 cases per 100,000 children (<18 years old) per year, which is significantly higher than the estimated incidence in Germany (0.007 cases per 100,000 children [<18 years] per year; P < .001). Patients with nonmetastatic disease (n = 46) that were treated with a combination therapy had a 2-year progression-free survival (PFS) rate of 58% (95% CI, 44%-76%) and a 2-year overall survival rate of 71% (95% CI, 57%-87%). PFS was the highest in patients treated with chemotherapy with ifosfamide, carboplatin, and etoposide (ICE) after upfront surgery followed by radiotherapy and ICE (2-year PFS, 79% [59%-100%], n = 18). CONCLUSIONS: Primary CNS sarcoma with DICER1 mutation has an aggressive clinical course. A combination of surgery, chemotherapy, and radiotherapy seems beneficial. An underlying cancer predisposition syndrome explaining the increased incidence in Peruvian patients has not been identified so far. LAY SUMMARY: A high incidence of primary pediatric central nervous system sarcomas in the Peruvian population is described. Using sequencing technologies and DNA methylation profiling, it is confirmed that these tumors molecularly belong to the recently proposed entity "primary central nervous system sarcomas, DICER1 mutant." Unexpectedly, DICER1 mutations as well as all other defining tumor mutations (TP53 mutations and RAS-pathway mutations) were not inherited in all 19 patients where analyzation was possible. These tumors have an aggressive clinical course. Multimodal combination therapy based on surgery, ifosfamide, carboplatin, and etoposide chemotherapy, and local radiotherapy leads to superior outcomes.

Pentalogía de Cantrell: informe de un caso en embarazo gemelar / Pentalogy of Cantrell: report a case in twin pregnancy

Es un raro síndrome caracterizado por una disrupción del segmento inferior del esternón, defectos anteriores del diafragma, defectos de la pared abdominal supraumbilical, defectos del pericardio y del corazón. Ecograficamente, el defecto más obvio es el onfalocele, seguido de los defectos del tercio inferior del esternón y las alteraciones del corazón. Se presenta paciente femenina de 39 años, con una gestación múltiple de 34.3 semanas, uno de cuyos productos mostró al ecosonograma signos compatibles con pentalogía de Cantrell. Se obtuvo un producto de 2100 gramos de peso, con onfalocele, ectopía cordis, pabellones auriculares de implantación baja, cifoescoliosis, agenesia de genitales y anal, el cual falleció a las 2 horas de vida post-natal.